Abnormal electrophysiology in a case of torpedo maculopathy

Abstract

Torpedo maculopathy is an uncommon, often isolated retinal finding reported in literature. We report a case of torpedo maculopathy with nystagmus and abnormal electroretinogram findings with an abnormal mutation in a child. This case highlights the need for a detailed evaluation including electrophysiology and genetic testing in this retinal pathology.

Keywords

• electrophysiology
• rp1l1 mutation
• torpedo maculopathy